NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) AND Mental retardation 3, X-linked

Clinical significance:Pathogenic (Last evaluated: Sep 5, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000057507.17

Allele description [Variation Report for NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)]

NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)

Gene:
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
HGVS:
  • NC_000023.11:g.153964702G>A
  • NG_012513.1:g.11667C>T
  • NM_005334.3:c.218C>TMANE SELECT
  • NP_005325.2:p.Ala73Val
  • NC_000023.10:g.153230153G>A
  • NM_005334.2:c.218C>T
  • g.153230153G>A
Protein change:
A73V; ALA73VAL
Links:
OMIM: 300019.0004; dbSNP: rs397515486
NCBI 1000 Genomes Browser:
rs397515486
Molecular consequence:
  • NM_005334.3:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation 3, X-linked (MAHCX)
Synonyms:
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Identifiers:
MONDO: MONDO:0010657; MedGen: C0796208; Orphanet: 369962; OMIM: 309541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088619OMIMno assertion criteria providedPathogenic
(Sep 5, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH.

Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022.

PubMed [citation]
PMID:
24011988
PMCID:
PMC3769968

Details of each submission

From OMIM, SCV000088619.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 unrelated boys with methylmalonic acidemia and homocysteinemia, cblX type (MAHCX; 309541), Yu et al. (2013) identified a hemizygous c.218C-T transition in the HCFC1 gene, resulting in an ala73-to-val (A73V) substitution at a highly conserved residue in the first kelch motif. The patients had severely delayed psychomotor development apparent in infancy and intractable seizures.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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